Unusual ribbon-like periventricular heterotopia with congenital cataracts in a Japanese girl

Rie Tsuburaya, Mitsugu Uematsu, Atsuo Kikuchi, Naomi Hino-Fukuyo, Shinji Kunishima, Mitsuhiro Kato, Kazuhiro Haginoya, Shigeru Tsuchiya

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)

Abstract

Periventricular heterotopia (PH), clumps of neurons mislocated beside the ventricle, is caused by failure to initiate migration during embryogenesis. We report on a 32-month-old Japanese girl with a unique subtype of PH, namely ribbon-like PH. The patient presented with severe psychomotor developmental delay, intractable epilepsy, and congenital cataracts and developed West syndrome phenotype. Brain magnetic resonance imaging revealed a unique undulating form of PH, categorized as ribbon-like PH, and other brain malformations including simplified gyri and dysgenesis of the corpus callosum. There was no evidence of prenatal TORCH infection or associated syndrome. Array-based comparative genomic hybridization revealed no chromosomal rearrangements. Genetic analyses of the FLNA, DCX, ARX, LIS1, and TUBA1A genes showed no mutations. Although little is known about ribbon-like PH, the clinical manifestations in our patient clearly differed from those in other reported patients.

Original languageEnglish
Pages (from-to)674-677
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number3
DOIs
Publication statusPublished - 2012 Mar

Keywords

  • Congenital cataract
  • Migration disorders
  • Ribbon-like periventricular heterotopia
  • West syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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